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Familial Cancer

Erschienen in:

01.03.2012 | Original Article

Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome

verfasst von: Victoria M. Raymond, Casey M. Herron, Thomas J. Giordano, Stephen B. Gruber

Erschienen in: Familial Cancer | Ausgabe 1/2012

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Abstract

Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a hereditary condition which typically presents with cutaneous and uterine leiomyomata. Papillary type II renal cell carcinoma and other less common histologic subtypes of renal cancer have been reported in HLRCC. We describe the case of a 31-year-old man in which the pathology review of his renal carcinoma and a positive family history of renal carcinoma allowed for the identification of a pathogenic mutation in the FH gene (c.698G>A;p.R233H) confirming the diagnosis of HLRCC. Recognition of this syndrome allowed for appropriate surveillance as well as identification of at-risk family members. Pathology review is essential for accurate diagnosis of a hereditary cancer syndrome in the setting of familial renal cancer.

Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30(4):406–410. doi:10.1038/ng849ng849 PubMedCrossRef

Reed WB, Walker R, Horowitz R (1973) Cutaneous leiomyomata with uterine leiomyomata. Acta Derm Venereol 53(5):409–416PubMed

Rudner EJ, Schwartz OD, Grekin JN (1964) Multiple cutaneous leiomyoma in identical twins. Arch Dermatol 90:81–82PubMedCrossRef

Fisher WC, Helwig EB (1963) Leiomyomas of the skin. Arch Dermatol 88:510–520PubMedCrossRef

Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA (2001) Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 98(6):3387–3392. doi:10.1073/pnas.051633798051633798 PubMedCrossRef

Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 79(1):49–59. doi:10.1111/j.1399-0004.2010.01486.x

Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73(1):95–106. doi:AJHG035018 PubMedCrossRef

Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR (2006) Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43(1):18–27. doi:10.1136/jmg.2005.033506 PubMedCrossRef

Ylisaukko-oja SK, Kiuru M, Lehtonen HJ, Lehtonen R, Pukkala E, Arola J, Launonen V, Aaltonen LA (2006) Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. Int J Cancer 119(2):283–287. doi:10.1002/ijc.21798 PubMedCrossRef

10.

Merino MJ, Torres-Cabala C, Pinto P, Linehan WM (2007) The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 31(10):1578–1585. doi:10.1097/PAS.0b013e31804375b8 PubMedCrossRef

11.

Lehtonen HJ (2011) Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer 10(2):397–411. doi:10.1007/s10689-011-9428-z PubMedCrossRef

12.

Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefevre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Mejean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Theodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S (2011) Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet 48(4):226–234. doi:10.1136/jmg.2010.085068 PubMedCrossRef

13.

Badeloe S, van Spaendonck-Zwarts KY, van Steensel MA, van Marion AM, van Essen AJ, Jonkman MF, Steijlen PM, Poblete-Gutierrez P, van Geel M, Frank J (2009) Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? Br J Dermatol 160(3):707–709. doi:10.1111/j.1365-2133.2008.09000.x PubMedCrossRef

14.

Lehtonen HJ, Blanco I, Piulats JM, Herva R, Launonen V, Aaltonen LA (2007) Conventional renal cancer in a patient with fumarate hydratase mutation. Hum Pathol 38(5):793–796. doi:10.1016/j.humpath.2006.10.011 PubMedCrossRef

15.

Chuang GS, Martinez-Mir A, Engler DE, Gmyrek RF, Zlotogorski A, Christiano AM (2006) Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Clin Exp Dermatol 31(1):118–121. doi:10.1111/j.1365-2230.2005.01977.x PubMedCrossRef

16.

Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IP (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 141(2):199–206. doi:10.1001/archderm.141.2.199 PubMedCrossRef

17.

Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomaki K, Pukkala E, Launonen V, Aaltonen LA (2006) Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet 43(6):523–526. doi:10.1136/jmg.2005.036400 PubMedCrossRef

18.

Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP (2003) Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 12(11):1241–1252PubMedCrossRef

19.

Zinn AB, Kerr DS, Hoppel CL (1986) Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. N Engl J Med 315(8):469–475. doi:10.1056/NEJM198608213150801 PubMedCrossRef

20.

Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A (1997) Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim Biophys Acta 1361(2):185–197. doi:S0925-4439(97)00035-5 PubMed

21.

Greenson JK, Bonner JD, Ben Yzhak O, Cohen HI, Miselevich I, Resnick MB, Trougouboff P, Tomsho LD, Kim E, Low M, Almog R, Rennert G, Gruber SB (2003) Phenotype of microsatellite unstable colorectal carcinomas: well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Am J Surg Pathol 27(5):563–570PubMedCrossRef

22.

Bayley JP, Launonen V, Tomlinson IP (2008) The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 9:20. doi:10.1186/1471-2350-9-20 PubMedCrossRef

23.

Vahteristo P, Koski TA, Naatsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Bjorck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomaki K, Aaltonen LA, Launonen V, Lehtonen R (2010) No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. Fam Cancer 9(2):245–251. doi:10.1007/s10689-009-9312-2 PubMedCrossRef

24.

Kiuru M, Launonen V (2004) Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med 4(8):869–875PubMedCrossRef

25.

Linehan WM (2009) Genetic basis of bilateral renal cancer: implications for evaluation and management. J Clin Oncol 27(23):3731–3733. doi:10.1200/JCO.2009.23.0045 PubMedCrossRef

26.

Singer EA, Bratslavsky G, Middelton L, Srinivasan R, Linehan WM (2011) Impact of genetics on the diagnosis and treatment of renal cancer. Curr Urol Rep 12(1):47–55. doi:10.1007/s11934-010-0156-y PubMedCrossRef

27.

Maher ER (2011) Genetics of familial renal cancers. Nephron Exp Nephrol 118(1):e21–e26. doi:10.1159/000320892 PubMedCrossRef

28.

Dharmawardana PG, Giubellino A, Bottaro DP (2004) Hereditary papillary renal carcinoma type I. Curr Mol Med 4(8):855–868PubMedCrossRef

29.

Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM (2005) Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome. J Urol 173(5):1482–1486. doi:10.1097/01.ju.0000154629.45832.30 PubMedCrossRef

30.

Henderson A, Douglas F, Perros P, Morgan C, Maher ER (2009) SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. Fam Cancer 8(3):257–260. doi:10.1007/s10689-009-9234-z PubMedCrossRef

31.

Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C (2004) Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 74(1):153–159. doi:10.1086/381054 PubMedCrossRef

32.

Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER (2010) Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat 31(1):41–51. doi:10.1002/humu.21136 PubMedCrossRef

33.

Refae MA, Wong N, Patenaude F, Begin LR, Foulkes WD (2007) Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. Nat Clin Pract Oncol 4(4):256–261. doi:10.1038/ncponc0773 PubMedCrossRef

34.

Alrashdi I, Levine S, Paterson J, Saxena R, Patel SR, Depani S, Hargrave DR, Pritchard-Jones K, Hodgson SV (2010) Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. Fam Cancer 9(2):239–243. doi:10.1007/s10689-009-9306-0 PubMedCrossRef

35.

Kiuru M, Launonen V, Hietala M, Aittomaki K, Vierimaa O, Salovaara R, Arola J, Pukkala E, Sistonen P, Herva R, Aaltonen LA (2001) Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 159(3):825–829PubMedCrossRef

Titel: Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome
verfasst von: Victoria M. Raymond
Casey M. Herron
Thomas J. Giordano
Stephen B. Gruber
Publikationsdatum: 01.03.2012
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 1/2012
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-011-9485-3

Springer Medizin

Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome

Abstract

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